Early Epilepsy Research Articles

Central nervous system manifestations of tuberous sclerosis complex: A single centre experience in Qatar.

To review the clinical and radiological correlation of the central nervous system manifestations of tuberous sclerosis complex (TSC). All patients under the age of 18 years with TSC seen at the Department of Pediatrics, Sidra Medicine, Doha, Qatar, between January 2003 and February 2021 were included in this retrospective study. Severity of epilepsy was determined using the early childhood epilepsy severity score (E-CHESS) tool. The study sample included 38 patients (50% male), 8 (21%) of whom were native to Qatar. The median age at diagnosis was 4 (range: 0-72) months. A family history of TSC was present in 10 (26%) cases, while 33 (86%) patients had a TSC2 gene mutation. Common presentations included seizures (79%), rhabdomyoma (26%), and developmental delay (13%). On MRI scans, cortical tubers were seen in all patients, subependymal nodules in 37 (97%), and subependymal giant cell astrocytoma was diagnosed in 8 (21%) cases. A total of 30 children developed epilepsy, 9 of whom had favorable and 21 had unfavorable E-CHESS scores, and 6 required pharmaceutical management. A total of 13 children were diagnosed with autistic spectrum disorder and 12 with attention deficit hyperactivity disorder. Multidisciplinary management and further research is needed to optimize the care and quality of life of TSC affected individuals and their families.

Employing Convolutional Neural Networks And Explainable Artificial intelligence for the Detection of Seizures from Electroencephalogram Signal

A seizure is a rapid, uncontrolled burst of electrical activity in the brain. Epilepsy is a neurological disorder caused by repeated seizures. Effective management requires early detection. This research aims to create a convolutional neural network (CNN) and explainable artificial intelligence (XAI) integrated system for epileptic seizure detection, using techniques such as Shapley additive explanation (SHAP) for better interpretability. The relevant data is acquired from a variety of electroencephalogram (EEG) dataset to facilitate the development of the model. To identify the EEG data, the proposed system combines deep learning models with feature extraction technique. Model visualization and XAI approaches like feature importance analysis from SHAP values offer clear insights into the model's decision-making process. Evaluation criteria like specificity and accuracy are used to assess the models' performance. This framework's objective is to create simple seizure detection systems that assist early epilepsy patient identification and individualized treatment plans. This research aims in opening the door to improved patient care and treatment by developing the field of epilepsy seizure detection.

WONOEP appraisal: The role of glial cells in focal malformations associated with early onset epilepsies.

Epilepsy represents a common neurological disorder in patients with developmental brain lesions, particularly in association with malformations of cortical development and low-grade glioneuronal tumors. In these diseases, genetic and molecular alterations in neurons are increasingly discovered that can trigger abnormalities in the neuronal network, leading to higher neuronal excitability levels. However, the mechanisms underlying epilepsy cannot rely solely on assessing the neuronal component. Growing evidence has revealed the high degree of complexity underlying epileptogenic processes, in which glial cells emerge as potential modulators of neuronal activity. Understanding the role of glial cells in developmental brain lesions such as malformations of cortical development and low-grade glioneuronal tumors is crucial due to the high degree of pharmacoresistance characteristic of these lesions. This has prompted research to investigate the role of glial and immune cells in epileptiform activity to find new therapeutic targets that could be used as combinatorial drug therapy. In a special session of the XVI Workshop of the Neurobiology of Epilepsy (WONOEP, Talloires, France, July 2022) organized by the Neurobiology Commission of the International League Against Epilepsy, we discussed the evidence exploring the genetic and molecular mechanisms of glial cells and immune response and their implications in the pathogenesis of neurodevelopmental pathologies associated with early life epilepsies.

Incidence of drug dependence and epilepsy in patients with PTC (Post Traumatic Contusions) manage conservatively. A prospective study.

Objective: To explore the presence of drug dependence and Epilepsy in patients with PTC (Post Truamatic Contusions) balanced cautiously. Study Design: Proposed Reviewed Research study. Setting: Hayatabad Medical Complex, Peshawar. Period: July 2020 to December 2020. Methods: About 90% of patients aged between fifteen to sixty-five years old identified with cerebral lesion and balanced cautiously were applied. Follow up sessions was provided to patients for 12to 18 months. Results: Among the enrolled patients, 23% established early PTS (Post Traumatic Seizures) and approximately established late PTS (Post Traumatic Seizures) from mild to moderate level of cerebral lesion. Patients having early signs of Post traumatic Seizure, about 6% utilized AEDs (Anti-epileptic Drugs) for about 3 months throughout the treatment period and about 7% of patients along with late Post Traumatic Seizures utilized AEDs. Moreover, approximately 8 percent patients established late post traumatic Seizure without considering any early signs of condition. Research findings indicated that only 3% of patients with early and late PTS actually required AEDs for at least 6 months. Although, about 44 percent of patients were utilizing Anti-epileptic drugs to control seizures. Sensible usage of Anti-epileptic drugs is familiar in our region, contributing to enhanced danger of medicine opposition and acquiring financial pressure on low-paid people in well-established state. Additionally, extreme usage of anti-epileptic and prophylactic drugs doesn’t impact the occurrence of PTE (Post Traumatic Epilepsy). Conclusion: The presence of late and early post-traumatic epilepsy observed within our study is contrast to that explored in another research. Sensible production of AEDs is occured in our state, that increases the danger of medicine opposition and attain financial issues for economically destruct people in well-established states. Extreme usage of AEDs and prophylactic drugs doesn’t have an important influence on stopping PTE.

Variability of cortico-cortical evoked potentials in the epileptogenic zone is related to seizure occurrence.

Cortico-cortical evoked potentials (CCEPs) were described as reproducible during trains of single-pulse electrical stimulations (SPES). Still, few studies described a variability of CCEPs that was higher within the epileptogenic zone (EZ). This study aimed at characterizing the relationship of CCEP variability with the occurrence of interictal/ictal epileptiform discharges at the temporal vicinity of the stimulation, but not during the stimulation, by effective connectivity modifications. We retrospectively included 20 patients who underwent SPES during their stereo-electroencephalography (SEEG). We analyzed the variability of CCEPs by using the post-stimulation time course of intertrial standard deviation (amplitude) and the timing of peak amplitude signal of CCEP epochs (latency). Values were corrected for the Euclidian distance between stimulating/recording electrodes. Receiver operating characteristics curves were used to assess the relationship with the EZ. The link between CCEP variability and interictal discharges occurrence, seizure frequency prior to the SEEG recording, and number of seizures during SEEG recording was assessed with Spearman's correlations. A relationship was demonstrated between the EZ and both the distance-corrected latency variation (area under the curve (AUC): 0.73-0.74) and the distance-corrected amplitude variation (AUC: 0.71-0.72) and both were related with the occurrence of seizures. Seizures before/during SEEG impact the dynamics of effective connectivity within the epileptogenic network by reducing the variability of CCEP latency/amplitude when the seizure frequency increases. It suggests a strengthening of the epileptogenic network with the occurrence of many seizures. These findings stress the importance of early epilepsy surgery at a time when the network organization has not yet been complete.

The long odyssey for the DEE-CDKL5 diagnosis: A call for action.

This study aims to determine the current state of CDD diagnosis and epilepsy treatment in an upper-middle-income country. Forty-seven families of the Brazilian CDD Association were invited to participate in an online survey to gather information about the diagnosis and treatment of epilepsy. Forty-three families (91.5%) of unrelated patients with confirmed genetic diagnosis of CDD participated. The median age was 7 years (ranging from 1.3-25 years) and the male: female ratio was 1:6. Early and severe epilepsy started during infancy in 74.4%. Seizures occurred daily in 61.9% and 83.7% had clusters of seizures. The mean age of diagnosis was 3.3 years (ranging from 37 days to 16 years), and younger patients had an earlier diagnosis (p < 0.001). Patients were seen by an average of 4.4 physicians (1-15) before the diagnosis. The most relevant obstacles to genetic testing were cost (55.8%) and late requests by physicians (27.9%). At the moment of the assessment, patients received a mean of 3.6 ASMs/day (ranging from 1 to 5). Thirty-four (79.1%) caregivers reported side effects throughout life, including life-threatening events in 16.3%. Based on our findings, a sense of urgency for genetic assessment implementation is evident since the delay in the diagnosis with unnecessary use of resources and excessive polytherapy with serious side effects cause a higher burden to the healthcare system, caregivers, and patients. In this study, we assessed the diagnosis and treatment of patients with genetically confirmed DEE-CDKL5 from the Brazilian Association of CDD with an online survey. Caregivers reported a long delay in the diagnosis associated with cost and late referral to genetic testing, considered the last resource for one-third of the patients. Patients received a high number of ASM, mainly under polytherapy, with serious side effects. Although it is promising that younger patients received earlier diagnosis, public policies for genetic testing are needed to improve CDD patients' care.

Epilepsy surgery below the age of 5 years: Are we still in time to preserve developmental and intellectual functions?

The aim of this study is to describe the pre- and post-operative developmental and intellectual functions in a cohort of patients who underwent surgery for drug-resistant epilepsy (DRE) before the age of 5 years. We retrospectively reviewed the medical records and neurodevelopmental assessments of a cohort of 80 surgically treated pediatric patients with DRE. We included patients if they had at least one pre- and one post-surgical neuropsychological assessments; 27 met the inclusion criteria. We evaluated Developmental Quotient (DQ) and Intelligence Quotient (IQ) before and after surgery. We identified two groups based on psychological evaluation outcome: Group 1, with stable or improved developmental and intellectual functions, and Group 2, experiencing developmental and intellectual loss. The mean age at seizure onset was 1.2 ± 1.0 years, and the mean age at surgery was 2.9 ± 1.2 years. At the last follow-up (mean 4 years, SD ± 2), 19/27 (70%) patients were seizure- and drug-free; 18/27 patients (67%) fit in Group 1, and 9/27 (33%) fit in Group 2. The mean age at surgery was 2.6 years (SD ± 1.1; range 1.2-5.1) in Group 1 and 3.4 years in Group 2 (SD ± 1.1; range 1.6-5.0). Group 1 had a lower pre-operative DQ/IQ total score than Group 2 (median DQ/IQ respectively 82 vs 108, p = 0.05). Between pre- and post-assessments, we found that in Group 1, Performance scores improved (82.7 vs 102, p = 0.001), while in Group 2, the Total and Verbal scores worsened (respectively 108 vs 75, p = 0.008, and 100 vs 76, p = 0.021). Our study's results emphasize the positive impact of surgery before the age of 5 years on developmental and intellectual outcomes. Despite limitations such as a small sample size, lack of a control group, and diverse etiologies, our findings support the crucial role of early intervention in preserving or enhancing developmental and intellectual functions in young patients with DRE. This retrospective study, conducted at the Bambino Gesù Children Hospital in Italy, reports neuropsychological and developmental and/or cognitive data for children undergoing early epilepsy surgery (before the age of 5). It found that children with lower developmental or cognitive profiles gained the highest scores on post-operative neuropsychological evaluations. This study provides information on the potential benefits of early surgery in shortening the duration of epilepsy, preventing or arresting deterioration, and enhancing plasticity and recovery.

PPP3CA gene-related developmental and epileptic encephalopathy: Expanding the electro-clinical phenotype

PurposeThe objective of this study is to characterize the electro-clinical phenotype of individuals affected by the rare PPP3CA gene-related developmental and epileptic encephalopathy (DEE). MethodsWe provide a detailed electro-clinical description of four previously unreported subjects, with unremarkable structural brain MRI and a normal screening for inborn errors of metabolism, who carry pathogenic variants within the regulatory domain of the PPP3CA gene, which encodes for calcineurin. We also conducted a literature review via PubMed and SCOPUS (up to December 2023) to collect all the studies reporting clinical details of subjects with PPP3CA pathogenic variants within the regulatory domain. ResultsOur in-depth investigation reveals two distinct electro-clinical phenotypes with unique interictal and ictal patterns. Pathogenic variants within the calmodulin-binding domain result in childhood-onset epilepsy with focal and generalized seizures, developmental and intellectual impairments. Pathogenic variants within the regulatory domain lead to early onset drug-resistant severe epilepsy and potentially fatal outcomes. Comparative analysis with existing literature corroborates the notion that truncating mutations, prevalent in the regulatory domain but also possible in the calmodulin-binding domain, consistently associate with more profound disabilities and drug-resistant epilepsy. ConclusionOur study emphasizes the critical role of pathogenic variants’ type and location on the severity of PPP3CA-related DEE. We also speculate, based on peculiar EEG patterns, on potential pathophysiological mechanisms involving calcineurin dysfunction and calcium homeostasis. In order to improve our understanding of this rare DEE, we need both collaborative efforts to gather larger cohorts and further experimental studies.

POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy

PurposeTo report on a new phenotype in a patient carrying a novel, undescribed de novo variant in POLR3B, affected by generalized myoclonic epilepsy and neurodevelopmental disorder, without neuropathy. It is known that biallelic pathogenic variants in POLR3B cause hypomyelinating leukodystrophy-8, and heterozygous de novo variants are described in association to a phenotype characterized by predominantly demyelinating sensory-motor peripheral neuropathy, ataxia, spasticity, intellectual disability and epilepsy, in which the peripheral neuropathy is often the main clinical presentation. MethodsWe collected clinical, electrophysiological and neuroimaging data from the affected subject and performed a Trio-Clinical Exome Sequencing. ResultsWe detected a de novo novel heterozygous missense variant c.1132A>G in POLR3B (NM_018082.6) that was considered as likely pathogenic following ACMG criteria. We also consulted our custom genomic database of a total of 1485 patients that were genetically analysed from 2018 for epilepsy, and found no other de novo variants in the POLR3B gene. ConclusionWe hypothesize a possible genotype-phenotype correlation, particularly regarding epilepsy. We also provide a review of the literature about the previously described POLR3B heterozygous patients, with particular attention to the epileptic phenotype, underlining the association between POLR3B and early onset myoclonic epilepsy, which can represent the main manifestation of the disease at its onset.

Hsp90aa1/JUN/Ccl2 regulatory axis mediates migration and differentiation of NSPCs, promoting the onset and progression of early post-ischemic stroke epilepsy

Early-onset epilepsy following ischemic stroke is a severe neurological condition, the pathogenesis of which remains incompletely understood. Recent studies suggest that Neural stem/progenitor cells (NSPCs) play a crucial role in the disease process, yet the precise molecular mechanisms regulating NSPCs have not been thoroughly investigated. This study utilized single-cell transcriptome sequencing and bioinformatics analysis to identify disease-related genes, which were subsequently validated in both in vitro and in vivo experiments. The findings revealed that Hsp90aa1 (heat shock protein 90 kDa alpha, class A member 1), Jun proto-oncogene (JUN), and CC Motif Ligation 2 (Ccl2) constitute an important regulatory axis influencing the migration and differentiation of NSPCs, potentially impacting the onset and progression of early-onset epilepsy post-ischemic stroke. Additionally, the expression of Hsp90aa1 was found to influence the likelihood of seizure occurrence and the severity of brain ischemia.

WONOEP appraisal: Modeling early onset epilepsies.

Epilepsy has a peak incidence during the neonatal to early childhood period. These early onset epilepsies may be severe conditions frequently associated with comorbidities such as developmental deficits and intellectual disability and, in a significant percentage of patients, may be medication-resistant. The use of adult rodent models in the exploration of mechanisms and treatments for early life epilepsies is challenging, as it ignores significant age-specific developmental differences. More recently, models developed in immature animals, such as rodent pups, or in three-dimensional organoids may more closely model aspects of the immature brain and could result in more translatable findings. Although models are not perfect, they may offer a more controlled screening platform in studies of mechanisms and treatments, which cannot be done in pediatric patient cohorts. On the other hand, more simplified models with higher throughput capacities are required to deal with the large number of epilepsy candidate genes and the need for new treatment options. Therefore, a combination of different modeling approaches will be beneficial in addressing the unmet needs of pediatric epilepsy patients. In this review, we summarize the discussions on this topic that occurred during the XVI Workshop on Neurobiology of Epilepsy, organized in 2022 by the Neurobiology Commission of the International League Against Epilepsy. We provide an overview of selected models of early onset epilepsies, discussing their advantages and disadvantages. Heterologous expression models provide initial functional insights, and zebrafish, rodent models, and brain organoids present increasingly complex platforms for modeling and validating epilepsy-related phenomena. Together, these models offer valuable insights into early onset epilepsies and accelerate hypothesis generation and therapy discovery.

Prevalence of all epilepsies in urban informal settlements in Nairobi, Kenya: a two-stage population-based study

WHO estimates that more than 50 million people worldwide have epilepsy and 80% of cases are in low-income and middle-income countries. Most studies in Africa have focused on active convulsive epilepsy in rural areas, but there are few data in urban settings. We aimed to estimate the prevalence and spatial distribution of all epilepsies in two urban informal settlements in Nairobi, Kenya. We did a two-stage population-based cross-sectional study of residents in a demographic surveillance system covering two informal settlements in Nairobi, Kenya (Korogocho and Viwandani). Stage 1 screened all household members using a validated epilepsy screening questionnaire to detect possible cases. In stage 2, those identified with possible seizures and a proportion of those screening negative were invited to local clinics for clinical and neurological assessments by a neurologist. Seizures were classified following the International League Against Epilepsy recommendations. We adjusted for attrition between the two stages using multiple imputations and for sensitivity by dividing estimates by the sensitivity value of the screening tool. Complementary log-log regression was used to assess prevalence differences by participant socio-demographics. A total of 56 425 individuals were screened during stage 1 (between Sept 17 and Dec 23, 2021) during which 1126 were classified as potential epilepsy cases. A total of 873 were assessed by a neurologist in stage 2 (between April 12 and Aug 6, 2022) during which 528 were confirmed as epilepsy cases. 253 potential cases were not assessed by a neurologist due to attrition. 30 179 (53·5%) of the 56 425 individuals were male and 26 246 (46·5%) were female. The median age was 24 years (IQR 11-35). Attrition-adjusted and sensitivity-adjusted prevalence for all types of epilepsy was 11·9 cases per 1000 people (95% CI 11·0-12·8), convulsive epilepsy was 8·7 cases per 1000 people (8·0-9·6), and non-convulsive epilepsy was 3·2 cases per 1000 people (2·7-3·7). Overall prevalence was highest among separated or divorced individuals at 20·3 cases per 1000 people (95% CI 15·9-24·7), unemployed people at 18·8 cases per 1000 people (16·2-21·4), those with no formal education at 18·5 cases per 1000 people (16·3-20·7), and adolescents aged 13-18 years at 15·2 cases per 1000 people (12·0-18·5). The epilepsy diagnostic gap was 80%. Epilepsy is common in urban informal settlements of Nairobi, with large diagnostic gaps. Targeted interventions are needed to increase early epilepsy detection, particularly among vulnerable groups, to enable prompt treatment and prevention of adverse social consequences. National Institute for Health Research using Official Development Assistance.

Epilepsy as a Novel Phenotype of BPTF-Related Disorders

BackgroundNeurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) is associated to BPTF gene haploinsufficiency. Epilepsy was not included in the initial descriptions of NEDDFL, but emerging evidence indicates that epileptic seizures occur in some affected individuals. This study aims to investigate the electroclinical epilepsy features in individuals with NEDDFL. MethodsWe enrolled individuals with BPTF-related seizures or interictal epileptiform discharges (IEDs) on electroencephalography (EEG). Demographic, clinical, genetic, raw EEG, and neuroimaging data as well as response to antiseizure medication were assessed. ResultsWe studied 11 individuals with a null variant in BPTF, including five previously unpublished ones. Median age at last observation was 9 years (range: 4 to 43 years). Eight individuals had epilepsy, one had a single unprovoked seizure, and two showed IEDs only. Key features included (1) early childhood epilepsy onset (median 4 years, range: 10 months to 7 years), (2) well-organized EEG background (all cases) and brief bursts of spikes and slow waves (50% of individuals), and (3) developmental delay preceding seizure onset. Spectrum of epilepsy severity varied from drug-resistant epilepsy (27%) to isolated IEDs without seizures (18%). Levetiracetam was widely used and reduced seizure frequency in 67% of the cases. ConclusionsOur study provides the first characterization of BPTF-related epilepsy. Early-childhood-onset epilepsy occurs in 19% of subjects, all presenting with a well-organized EEG background associated with generalized interictal epileptiform abnormalities in half of these cases. Drug resistance is rare.

Microglial P2Y6 calcium signaling promotes phagocytosis and shapes neuroimmune responses in epileptogenesis

Microglial calcium signaling is rare in a baseline state but strongly engaged during early epilepsy development. The mechanism(s) governing microglial calcium signaling are not known. By developing an invivo uridine diphosphate (UDP) fluorescent sensor, GRABUDP1.0, we discovered that UDP release is a conserved response to seizures and excitotoxicity across brain regions. UDP can signal through the microglial-enriched P2Y6 receptor to increase calcium activity during epileptogenesis. P2Y6 calcium activity is associated with lysosome biogenesis and enhanced production of NF-κB-related cytokines. In the hippocampus, knockout of the P2Y6 receptor prevents microglia from fully engulfing neurons. Attenuating microglial calcium signaling through calcium extruder ("CalEx") expression recapitulates multiple features of P2Y6 knockout, including reduced lysosome biogenesis and phagocytic interactions. Ultimately, P2Y6 knockout mice retain more CA3 neurons and better cognitive task performance during epileptogenesis. Our results demonstrate that P2Y6 signaling impacts multiple aspects of myeloid cell immune function during epileptogenesis.

183 Earlier Surgery is Associated With Improved Post-operative Language Development in Children With Tuberous Sclerosis Complex (TSC)

INTRODUCTION: Early life epilepsy in TSC has been strongly associated with lifelong intellectual disability. While improved seizure control correlates with improvements in quality of life and cognition, the importance of surgery timing in young children has not been well-studied. METHODS: Changes in patients’ preoperative (0-12 months) to postoperative (36 months) scores in neuropsychologic tests—including the Mullen Scales of Early Learning (MSEL), Vineland Adaptive Behavior Scales, Second Edition (VABS-II), and the Preschool Language Scales, 5th addition (PLS-5)—were calculated. Pearson correlation and multivariate linear regression models were used to correlate changes in test scores with age at surgery and separately with duration of epilepsy prior to surgery. Analysis was limited to those patients who demonstrated improved seizure control post-operatively (n = 18). RESULTS: Age at surgery had a statistically significant negative correlation with changes in the combined verbal sub-tests of the MSEL (R = -0.41, p = 0.04) and predicted the change in that measure outcome in a multivariate linear regression model (β: -0.09, p = 0.03). Similar trends were seen for the change in the total language score of the PLS-5 (R = -0.38, p = 0.06; β: -0.21, p = 0.07). Results were similar when the duration of epilepsy prior to surgery was assessed as the independent variable. However there were no clear trends with the VABS-II questionnaires, even in language domains. CONCLUSIONS: Our data shows that successful earlier surgery and shorter epilepsy duration prior to surgery are both associated with improved post-operative language development in a small cohort of patients with TSC. Prospective clinical trials are necessary to further elucidate this relationship.

Early onset absence epilepsy of childhood: Epidemiologic data, treatment and outcome in a sample of 56 patients born between 2000 and 2018

PurposeThe aim of our work is to describe the characteristics of Early Onset Absence Epilepsy (EOAE) and to observe whether specific anamnestic, clinical or electroencephalographic characteristics can influence the drug sensitivity of this pathology. MethodsWe carried out a retrospective study of patients affected by absence epilepsy with onset under four years of age, born between January 1st 2000 and December 31st 2018, who were reffered to the Regional Epilepsy Center of Spedali Civili of Brescia. We then divided the sample into three groups based on the age of onset. ResultsOur sample is composed of 56 patients. Among the children with epilepsy onset under two years of age (11), all were still on therapy after three and six years of follow-up, and 64 % of them required polytherapy. Among patients with epilepsy onset between two and three years of age (24), 87 % were still on therapy after three years of follow-up and 68 % after six years of follow-up; 46 % of these subjects required polytherapy. Among patients with epilepsy onset between three and four years of age (21), 89 % were still on therapy after three years of follow-up and 38 % after six years of follow-up; 38 % of them required polytherapy. ConclusionsWe observe that patients with an earlier epilepsy onset have a worse outcome and a lower drug sensitivity. This may allow to predict in which cases it would be appropriate to maintain antiseizure therapy for a prolonged period.

Advanced framework for epilepsy detection through image-based EEG signal analysis.

Recurrent and unpredictable seizures characterize epilepsy, a neurological disorder affecting millions worldwide. Epilepsy diagnosis is crucial for timely treatment and better outcomes. Electroencephalography (EEG) time-series data analysis is essential for epilepsy diagnosis and surveillance. Complex signal processing methods used in traditional EEG analysis are computationally demanding and difficult to generalize across patients. Researchers are using machine learning to improve epilepsy detection, particularly visual feature extraction from EEG time-series data. This study examines the application of a Gramian Angular Summation Field (GASF) approach for the analysis of EEG signals. Additionally, it explores the utilization of image features, specifically the Scale-Invariant Feature Transform (SIFT) and Oriented FAST and Rotated BRIEF (ORB) techniques, for the purpose of epilepsy detection in EEG data. The proposed methodology encompasses the transformation of EEG signals into images based on GASF, followed by the extraction of features utilizing SIFT and ORB techniques, and ultimately, the selection of relevant features. A state-of-the-art machine learning classifier is employed to classify GASF images into two categories: normal EEG patterns and focal EEG patterns. Bern-Barcelona EEG recordings were used to test the proposed method. This method classifies EEG signals with 96% accuracy using SIFT features and 94% using ORB features. The Random Forest (RF) classifier surpasses state-of-the-art approaches in precision, recall, F1-score, specificity, and Area Under Curve (AUC). The Receiver Operating Characteristic (ROC) curve shows that Random Forest outperforms Support Vector Machine (SVM) and k-Nearest Neighbors (k-NN) classifiers. The suggested method has many advantages over time-series EEG data analysis and machine learning classifiers used in epilepsy detection studies. A novel image-based preprocessing pipeline using GASF for robust image synthesis and SIFT and ORB for feature extraction is presented here. The study found that the suggested method can accurately discriminate between normal and focal EEG signals, improving patient outcomes through early and accurate epilepsy diagnosis.

Celecoxib treatment alleviates cerebral injury in a rat model of post-traumatic epilepsy

Background An important factor contributing to the development and occurrence of post-traumatic epilepsy (PTE) is neuroinflammation and oxidative stress. The effects of celecoxib include inhibiting inflammatory reactions and antioxidant stress and reducing seizures, making it a potential epilepsy treatment solution. Objective To observe the effect of celecoxib on early epilepsy in post-traumatic epilepsy rats. Methods: Twenty-four adult healthy male Sprague-Dawley rats were randomly assigned to three groups: sham-operated, PTE, and celecoxib. A rat model of PTE was established by injecting ferrous chloride into the right frontal cortex. Afterward, the behavior of rats was observed and recorded. 3.0T superconducting magnetic resonance imaging (MRI) was used to describe the changes in ADC values of the brain. HE and Nissl staining were also used to detect the damage to frontal lobe neurons. Furthermore, the expression of COX-2 protein in the right frontal lobe was detected by Western blot. Moreover, the contents of IL-1 and TNF-α in the right frontal lobe were detected by enzyme-linked immunosorbent assay. Results Compared with the PTE group, the degree of seizures in rats treated with celecoxib declined dramatically (P &lt; 0.05). Celecoxib-treated rats had significant decreases in tissue structural damage and cell death in the brain. The results of the MRI showed that celecoxib reduced the peripheral edema zone and ADC value of the cortex around the damaged area of the right frontal lobe in the celecoxib-treatment group, which was significantly decreased compared with the PTE group (P &lt; 0.05). Furthermore, celecoxib decreased the expression of COX-2, IL-1β, and TNF-α in brain tissue (P &lt; 0.05). Conclusions In PTE rats, celecoxib significantly reduced brain damage and effectively reduced seizures. As a result of celecoxib’s ability to inhibit inflammation, it can reduce the edema caused by injury in rat brain tissue.

A rare epilepsy phenotype in Gabriele-de Vries syndrome: A new case and literature review

Gabriele-de Vries syndrome (GADEVS) is an extremely rare genetic syndrome characterized by mild-to-profound intellectual disability/developmental delay and a wide spectrum of clinical features. Herein, we report a case involving a rare early childhood epilepsy phenotype in a patient diagnosed with GADEVS based on the typical clinical features and the identification of a pathologic variant of the Yin Yang 1 (YY1) gene. A 3-year-old girl with global developmental delay, failure to thrive, and facial dysmorphism was referred to our rare genetic clinic. She also presented with cognitive impairment, hypotonia, hyperlaxity, strabismus, and autistic features. Whole genome sequencing identified a de novo heterozygous missense variant in the YY1 (c.1130A&gt;G; p.His377Arg) gene. Notably, she developed afebrile seizures with abnormal electroencephalogram in early childhood. Currently, she has been seizure-free for more than 2 years with valproic acid. This case expands the epilepsy phenotypic features of GADEVS and reviews the association between the loss-of-function of the YY1 gene and epileptogenesis and possible treatment options.

EEG-Based Seizure Detection Using Variable-Frequency Complex Demodulation and Convolutional Neural Networks

Epilepsy is a complex neurological disorder characterized by recurrent and unpredictable seizures that affect millions of people around the world. Early and accurate epilepsy detection is critical for timely medical intervention and improved patient outcomes. Several methods and classifiers for automated epilepsy detection have been developed in previous research. However, the existing research landscape requires innovative approaches that can further improve the accuracy of diagnosing and managing patients. This study investigates the application of variable-frequency complex demodulation (VFCDM) and convolutional neural networks (CNN) to discriminate between healthy, interictal, and ictal states using electroencephalogram (EEG) data. For testing this approach, the EEG signals were collected from the publicly available Bonn dataset. A high-resolution time–frequency spectrum (TFS) of each EEG signal was obtained using the VFCDM. The TFS images were fed to the CNN classifier for the classification of the signals. The performance of CNN was evaluated using leave-one-subject-out cross-validation (LOSO CV). The TFS shows variations in its frequency for different states that correspond to variation in the neural activity. The LOSO CV approach yields a consistently high performance, ranging from 90% to 99% between different combinations of healthy and epilepsy states (interictal and ictal). The extensive LOSO CV validation approach ensures the reliability and robustness of the proposed method. As a result, the research contributes to advancing the field of epilepsy detection and brings us one step closer to developing practical, reliable, and efficient diagnostic tools for clinical applications.